NM_016038.4(SBDS):c.258+2T>C
|
rs113993993
|
0.00323
|
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala)
|
rs145588689
|
0.00162
|
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)
|
rs113994096
|
0.00160
|
NM_002693.3(POLG):c.752C>T (p.Thr251Ile)
|
rs113994094
|
0.00159
|
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)
|
rs75184679
|
0.00141
|
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile)
|
rs28937900
|
0.00103
|
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val)
|
rs141976414
|
0.00080
|
NM_005861.4(STUB1):c.433A>C (p.Lys145Gln)
|
rs146251364
|
0.00063
|
NM_000277.3(PAH):c.1208C>T (p.Ala403Val)
|
rs5030857
|
0.00057
|
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala)
|
rs141138948
|
0.00048
|
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met)
|
rs137852944
|
0.00048
|
NM_000023.4(SGCA):c.229C>T (p.Arg77Cys)
|
rs28933693
|
0.00046
|
NM_021830.5(TWNK):c.1523A>G (p.Tyr508Cys)
|
rs80356540
|
0.00028
|
NM_000023.4(SGCA):c.739G>A (p.Val247Met)
|
rs143570936
|
0.00019
|
NM_000083.3(CLCN1):c.180+3A>T
|
rs202217420
|
0.00019
|
NM_000360.4(TH):c.605G>A (p.Arg202His)
|
rs80338892
|
0.00014
|
NM_017825.3(ADPRS):c.1004T>G (p.Val335Gly)
|
rs201735454
|
0.00011
|
NM_024301.5(FKRP):c.1073C>T (p.Pro358Leu)
|
rs143031195
|
0.00011
|
NM_000243.3(MEFV):c.2282G>A (p.Arg761His)
|
rs104895097
|
0.00010
|
NM_000271.5(NPC1):c.2861C>T (p.Ser954Leu)
|
rs543206298
|
0.00010
|
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp)
|
rs121909011
|
0.00009
|
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile)
|
rs28940578
|
0.00006
|
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp)
|
rs200391019
|
0.00006
|
NM_002693.3(POLG):c.911T>G (p.Leu304Arg)
|
rs121918044
|
0.00004
|
NM_021942.6(TRAPPC11):c.1287+5G>A
|
rs397509418
|
0.00004
|
NM_024685.4(BBS10):c.273C>G (p.Cys91Trp)
|
rs148374859
|
0.00004
|
NM_138694.4(PKHD1):c.2341C>T (p.Arg781Ter)
|
rs398124478
|
0.00004
|
NM_000553.6(WRN):c.3913C>T (p.Arg1305Ter)
|
rs121908446
|
0.00002
|
NM_004407.4(DMP1):c.55-1G>C
|
rs587776697
|
0.00002
|
NM_004539.4(NARS1):c.1564C>T (p.Arg522Ter)
|
rs747737475
|
0.00002
|
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala)
|
rs387907196
|
0.00002
|
NM_025114.4(CEP290):c.6277del (p.Val2093fs)
|
rs771454167
|
0.00002
|
NM_138694.4(PKHD1):c.10174C>T (p.Gln3392Ter)
|
rs201082169
|
0.00002
|
NM_000091.5(COL4A3):c.28C>T (p.Gln10Ter)
|
rs1453590085
|
0.00001
|
NM_000091.5(COL4A3):c.3109C>T (p.Arg1037Ter)
|
rs766900945
|
0.00001
|
NM_000271.5(NPC1):c.2196dup (p.Pro733fs)
|
rs398123284
|
0.00001
|
NM_000334.4(SCN4A):c.1201C>T (p.Arg401Cys)
|
rs1188070167
|
0.00001
|
NM_001130987.2(DYSF):c.5419C>T (p.Arg1807Trp)
|
rs746243052
|
0.00001
|
NM_002180.3(IGHMBP2):c.138T>A (p.Cys46Ter)
|
rs372000714
|
0.00001
|
NM_002693.3(POLG):c.915C>G (p.Ser305Arg)
|
rs769410130
|
0.00001
|
NM_002860.4(ALDH18A1):c.2246G>A (p.Arg749Gln)
|
rs748925635
|
0.00001
|
NM_004836.7(EIF2AK3):c.2707C>T (p.Arg903Ter)
|
rs1178109063
|
0.00001
|
NM_012210.4(TRIM32):c.1459G>A (p.Asp487Asn)
|
rs111033570
|
0.00001
|
NM_015046.7(SETX):c.5825T>C (p.Ile1942Thr)
|
rs773379832
|
0.00001
|
NM_015046.7(SETX):c.6620A>T (p.Asp2207Val)
|
rs1564482221
|
0.00001
|
NM_020964.3(EPG5):c.7447C>T (p.Arg2483Ter)
|
rs863225064
|
0.00001
|
NM_021830.5(TWNK):c.1196A>G (p.Asn399Ser)
|
rs863223921
|
0.00001
|
NM_152618.3(BBS12):c.1063C>T (p.Arg355Ter)
|
rs121918327
|
0.00001
|
NM_153717.3(EVC):c.2894+3A>G
|
rs1424976594
|
0.00001
|
NM_153717.3(EVC):c.919T>C (p.Ser307Pro)
|
rs121908426
|
0.00001
|
NM_182961.4(SYNE1):c.20263C>T (p.Arg6755Ter)
|
rs780451185
|
0.00001
|
GRCh37/hg19 2q36.3(chr2:227942610-227945265)
|
|
|
GRCh37/hg19 2q36.3(chr2:228167754-228169799)
|
|
|
NM_000070.3(CAPN3):c.550del (p.Thr184fs)
|
rs80338800
|
|
NM_000082.4(ERCC8):c.481+1G>C
|
rs1580007152
|
|
NM_000082.4(ERCC8):c.551-1G>A
|
rs1554073316
|
|
NM_000083.3(CLCN1):c.697G>A (p.Gly233Ser)
|
rs139039122
|
|
NM_000091.5(COL4A3):c.1831G>A (p.Gly611Arg)
|
rs1574753929
|
|
NM_000091.5(COL4A3):c.2417dup (p.Gly807fs)
|
rs1440033157
|
|
NM_000091.5(COL4A3):c.2746+1G>T
|
rs1574786225
|
|
NM_000091.5(COL4A3):c.2747-1G>T
|
rs1196996393
|
|
NM_000091.5(COL4A3):c.351C>A (p.Tyr117Ter)
|
rs750308686
|
|
NM_000091.5(COL4A3):c.816dup (p.Pro273fs)
|
rs1574701767
|
|
NM_000092.4(COL4A4):c.1321_1369+3del
|
rs1553676221
|
|
NM_000092.5(COL4A4):c.3699_3706+1del
|
|
|
NM_000271.5(NPC1):c.3027del (p.Lys1010fs)
|
rs1598942578
|
|
NM_000287.4(PEX6):c.1314_1321del (p.Glu439fs)
|
rs267608216
|
|
NM_000287.4(PEX6):c.1947del (p.Ile650fs)
|
rs267608227
|
|
NM_000287.4(PEX6):c.2665A>G (p.Lys889Glu)
|
|
|
NM_000334.4(SCN4A):c.3625T>C (p.Cys1209Arg)
|
rs1598406692
|
|
NM_000426.4(LAMA2):c.4533del (p.Gly1512fs)
|
rs1776950897
|
|
NM_000466.3(PEX1):c.2097dup (p.Ile700fs)
|
rs61750415
|
|
NM_000466.3(PEX1):c.3579del (p.Asp1194fs)
|
rs1554366802
|
|
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)
|
rs113993960
|
|
NM_000782.5(CYP24A1):c.425AAG[1] (p.Glu143del)
|
rs777676129
|
|
NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg)
|
rs398122822
|
|
NM_001127671.2(LIFR):c.756dup (p.Lys253Ter)
|
rs1745753552
|
|
NM_001134831.2(AHI1):c.2266+1G>A
|
|
|
NM_001378454.1(ALMS1):c.9540-2A>G
|
|
|
NM_001696.4(ATP6V1E1):c.634C>T (p.Arg212Trp)
|
rs1028534806
|
|
NM_004004.6(GJB2):c.35del (p.Gly12fs)
|
rs80338939
|
|
NM_004407.4(DMP1):c.362del (p.Pro121fs)
|
rs587776696
|
|
NM_006208.3(ENPP1):c.2248dup (p.Ser750fs)
|
rs587776797
|
|
NM_006208.3(ENPP1):c.2444+702_*868del
|
|
|
NM_006208.3(ENPP1):c.430+1del
|
rs1554278331
|
|
NM_006208.3(ENPP1):c.797G>T (p.Gly266Val)
|
rs121908248
|
|
NM_006397.3(RNASEH2A):c.859T>C (p.Tyr287His)
|
|
|
NM_006618.5(KDM5B):c.2830dup (p.Leu944fs)
|
|
|
NM_006946.4(SPTBN2):c.5991_5992del (p.Glu1997fs)
|
rs1590911156
|
|
NM_014028.4(OSTM1):c.783+5G>T
|
rs1554250938
|
|
NM_014363.6(SACS):c.8793del (p.Lys2931fs)
|
rs767871841
|
|
NM_015046.7(SETX):c.6464T>G (p.Leu2155Trp)
|
rs1473613373
|
|
NM_015378.4(VPS13D):c.2020C>T (p.Arg674Ter)
|
rs756025227
|
|
NM_016038.4(SBDS):c.18del (p.Thr7fs)
|
rs1584439050
|
|
NM_016529.6(ATP8A2):c.691_701del (p.Leu231fs)
|
rs2038491713
|
|
NM_017807.4(OSGEP):c.839G>A (p.Arg280His)
|
rs144732839
|
|
NM_018075.5(ANO10):c.1025G>A (p.Trp342Ter)
|
rs1405576707
|
|
NM_018075.5(ANO10):c.1551dup (p.Ala518fs)
|
rs2079693628
|
|
NM_018294.6(CWF19L1):c.1114C>T (p.Gln372Ter)
|
rs1846512047
|
|
NM_018972.4(GDAP1):c.349dup (p.Tyr117fs)
|
rs1586803063
|
|
NM_020247.5(COQ8A):c.175C>T (p.Gln59Ter)
|
rs1572040505
|
|
NM_020247.5(COQ8A):c.656-1G>T
|
rs903436781
|
|
NM_020964.3(EPG5):c.1501A>T (p.Lys501Ter)
|
rs1203870830
|
|
NM_020964.3(EPG5):c.1924C>T (p.Arg642Ter)
|
rs912986968
|
|
NM_022168.4(IFIH1):c.2159G>A (p.Arg720Gln)
|
rs587777445
|
|
NM_024057.4(NUP37):c.225dup (p.Asp76Ter)
|
rs1309880692
|
|
NM_024301.5(FKRP):c.941C>T (p.Thr314Met)
|
rs398124395
|
|
NM_024417.5(FDXR):c.332T>C (p.Val111Ala)
|
|
|
NM_024417.5(FDXR):c.564_575del (p.Leu189_Ala192del)
|
|
|
NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter)
|
rs768443448
|
|
NM_024649.5(BBS1):c.831-3C>G
|
rs113994179
|
|
NM_024685.4(BBS10):c.271dup (p.Cys91fs)
|
rs549625604
|
|
NM_024735.5(FBXO31):c.1000G>A (p.Asp334Asn)
|
rs2150668444
|
|
NM_025114.4(CEP290):c.3175dup (p.Ile1059fs)
|
rs62640570
|
|
NM_025216.3(WNT10A):c.1199G>A (p.Cys400Tyr)
|
rs1575235227
|
|
NM_032856.5(WDR73):c.287G>A (p.Arg96Lys)
|
rs797044995
|
|
NM_032856.5(WDR73):c.706_719dup (p.Ser240fs)
|
rs1596050297
|
|
NM_032856.5(WDR73):c.766dup (p.Arg256fs)
|
rs727502864
|
|
NM_138694.4(PKHD1):c.9182_9183insATTAGTGACA (p.Asn3062fs)
|
rs1582441668
|
|
NM_152618.3(BBS12):c.1531_1539del (p.Gln511_Gln513del)
|
rs752762669
|
|
NM_176824.3(BBS7):c.712_715del (p.Arg238fs)
|
rs760165634
|
|
NM_182961.4(SYNE1):c.12247C>T (p.Gln4083Ter)
|
rs1590463470
|
|
NM_182961.4(SYNE1):c.15280del (p.Asp5094fs)
|
|
|
NM_182961.4(SYNE1):c.4908C>A (p.Tyr1636Ter)
|
rs771955377
|
|
NM_213599.3(ANO5):c.191dup (p.Asn64fs)
|
rs137854521
|
|